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  • Title: delta F508 deletion in cystic fibrosis in Italian families.
    Author: Restagno G, Garnerone S, Gennaro C, Varetto O, Ansaldi N, Castello D, Santini B, Carbonara AO.
    Journal: Hum Genet; 1990 Sep; 85(4):422-3. PubMed ID: 1976596.
    Abstract:
    In 20 Italian families with cystic fibrosis (CF), restriction fragment length polymorphisms were detected by five linked markers; a strong linkage disequilibrium is observed between the haplotype B (alleles 2/1 with respect to KM19/XV2c) and CF. The frequency of the delta F508 deletion in CF chromosomes of this sample is 50%. A significant correlation is found between the absence of the delta F508 mutation and pancreatic sufficiency.
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